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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LTV1
LTV1 ribosome biogenesis factor
Chromosome 6 · 6q24.2
NCBI Gene: 84946Ensembl: ENSG00000135521.10HGNC: HGNC:21173UniProt: Q96GA3
126PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolnucleoplasmribosome biogenesisneurodegenerative diseaseParkinson diseaselysosomal storage diseasemultiple sclerosis
✦AI Summary

LTV1 is an essential ribosome biogenesis factor required for small (40S) ribosomal subunit assembly and maturation 1. Primary function: LTV1 facilitates incorporation of ribosomal proteins (Rps3, Rps10, and RACK1) into the 40S subunit head and promotes nascent subunit export from the nucleus to the cytoplasm 2. Mechanism: LTV1 functions as a chaperone during early and late-stage 40S assembly, with its release from pre-40S particles controlled by casein kinase 1δ/ε phosphorylation, a critical step for ribosome maturation and translational quality control 34. Disease relevance: Biallelic LTV1 mutations cause LIPHAK syndrome (LTV1-associated Inflammatory Poikiloderma with Hair abnormalities and Acral Keratoses), a ribosomopathy characterized by dermatological abnormalities 1. In zebrafish models, ltv1 deficiency impairs digestive organ and hematopoietic development through p53-independent mechanisms 5. Clinical significance: LTV1 dysfunction affects translational fidelity and ribosome-mediated quality control; cancer cells exploit reduced LTV1 levels to generate heterogeneous ribosome populations promoting stress survival 2. CK1δ inhibitors used therapeutically disrupt LTV1-mediated ribosome assembly, representing a validated anticancer mechanism 3.

Sources cited
1
Biallelic LTV1 mutations cause LIPHAK syndrome with dermatological abnormalities and impaired ribosome biogenesis
PMID: 34999892
2
LTV1 facilitates incorporation of specific ribosomal proteins into 40S head and affects translational fidelity
PMID: 30348748
3
CK1δ/ε phosphorylate LTV1 to release it from pre-40S particles, essential for ribosome maturation and cell growth
PMID: 25778921
4
CK1δ and CK1ε phosphorylate LTV1 on pre-40S subunits to trigger late maturation steps
PMID: 24424021
5
ltv1 deficiency in zebrafish impairs digestive organ and hematopoietic development through p53-independent mechanisms
PMID: 34692673
6
LTV1 localization is regulated by hnRNPU and is involved in nuclear export of ribosome subunits
PMID: 37984724
7
LTV1 is a late-acting human 40S assembly factor with defined structural roles in ribosome maturation
PMID: 29875412
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.51Moderate
Parkinson diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
inflammatory poikiloderma with hair abnormalities and acral keratosesOpen Targets
0.42Moderate
breast cancerOpen Targets
0.07Suggestive
ovarian dysfunctionOpen Targets
0.05Suggestive
transient myeloproliferative syndromeOpen Targets
0.05Suggestive
anaphylaxisOpen Targets
0.05Suggestive
gliomaOpen Targets
0.05Suggestive
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9Open Targets
0.04Suggestive
reticular dysgenesisOpen Targets
0.03Suggestive
cardiac transplantOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
Inflammatory poikiloderma with hair abnormalities and acral keratosesUniProt
Pathogenic Variants1
NM_032860.5(LTV1):c.503A>G (p.Asn168Ser)Pathogenic
Inflammatory poikiloderma with hair abnormalities and acral keratoses
☆☆☆☆2023→ Residue 168
View on ClinVar ↗
Related Genes
CSNK1A1Protein interaction100%CSNK1DProtein interaction100%CSNK1EProtein interaction100%RIOK3Protein interaction100%GNL3LProtein interaction100%RIOK1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
52%
Lung
48%
Ovary
45%
Brain
40%
Heart
35%
Gene Interaction Network
Click a node to explore
LTV1CSNK1A1CSNK1DCSNK1ERIOK3GNL3LRIOK1
PROTEIN STRUCTURE
Preparing viewer…
PDB7WTU · 3.00 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.54 [0.40–0.75]
RankingsWhere LTV1 stands among ~20K protein-coding genes
  • #3,731of 20,598
    Most Researched126 · top quartile
  • #4,818of 5,498
    Most Pathogenic Variants1
  • #5,885of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedLTV1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RNA-binding protein hnRNPU regulates multiple myeloma resistance to selinexor.
PMID: 37984724
Cancer Lett · 2024
1.00
2
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
PMID: 34999892
Hum Mol Genet · 2022
0.90
3
Ribosome biogenesis factor Ltv1 chaperones the assembly of the small subunit head.
PMID: 30348748
J Cell Biol · 2018
0.80
4
Hrr25/CK1δ-directed release of Ltv1 from pre-40S ribosomes is necessary for ribosome assembly and cell growth.
PMID: 25778921
J Cell Biol · 2015
0.70
5
The C-terminal tail of ribosomal protein Rps15 is engaged in cytoplasmic pre-40S maturation.
PMID: 35438042
RNA Biol · 2022
0.60